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ONTOLOGY REPORT - ANNOTATIONS


Term:hemangioblastoma
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Accession:DOID:5241 term browser browse the term
Definition:A benign tumor of the nervous system that may occur sporadically or in association with VON HIPPEL-LINDAU DISEASE. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with INTRACRANIAL HYPERTENSION, and ataxia. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2071-2)
Synonyms:exact_synonym: Multiple Hemangioblastoma;   capillary hemangioblastoma;   hemangioblastomas;   multiple hemangioblastomas
 primary_id: MESH:D018325
 alt_id: RDO:0007184
 xref: GARD:8232;   GARD:8522;   NCI:C3801
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hemangioblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hif1a hypoxia inducible factor 1 subunit alpha JBrowse link 6 96,810,868 96,856,303 RGD:11554173
G Ndrg1 N-myc downstream regulated 1 JBrowse link 7 107,734,326 107,775,701 RGD:11554173
cerebellar angioblastoma term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vhl von Hippel-Lindau tumor suppressor JBrowse link 4 145,580,869 145,587,835 RGD:8554872
von Hippel-Lindau disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brk1 BRICK1 subunit of SCAR/WAVE actin nucleating complex JBrowse link 4 145,559,206 145,574,438 RGD:8554872
G Ccnd1 cyclin D1 JBrowse link 1 218,090,750 218,100,447 RGD:7240710
RGD:8554872
G Epas1 endothelial PAS domain protein 1 JBrowse link 6 10,306,508 10,385,239 RGD:11041600
G Fancd2 FA complementation group D2 JBrowse link 4 145,489,869 145,551,479 RGD:8554872
G Fancd2os FANCD2 opposite strand JBrowse link 4 145,549,248 145,556,054 RGD:8554872
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:7241233
G Slc18a1 solute carrier family 18 member A1 JBrowse link 16 22,358,646 22,395,183 RGD:5131200
G Vhl von Hippel-Lindau tumor suppressor JBrowse link 4 145,580,869 145,587,835 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
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Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      cardiovascular system disease 4229
        cardiovascular organ benign neoplasm 83
          hemangioma 79
            hemangioblastoma 10
              brain stem angioblastoma 0
              cerebellar angioblastoma 1
              retinal hemangioblastoma 0
              von Hippel-Lindau disease 8
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          skin disease 2445
            Skin Neoplasms 197
              skin benign neoplasm 46
                skin hemangioma 18
                  capillary hemangioma 16
                    hemangioblastoma 10
                      brain stem angioblastoma 0
                      cerebellar angioblastoma 1
                      retinal hemangioblastoma 0
                      von Hippel-Lindau disease 8
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